Aortic progression and reintervention in patients with pathogenic variants after a thoracic aortic dissection.

ABSTRACT:

Objective

To evaluate aortic disease progression and reintervention after an initial thoracic aortic dissection in pathogenic variant carriers.

Methods

Of 175 participants diagnosed with thoracic aortic dissection, 31 had a pathogenic variant (pathogenic group) across 6 genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, TGFBR2) identified by whole exome sequencing. Those with benign or normal variants (benign/normal group, n = 144) comprised the control group. Clinical data were collected through medical record review (1985-2018) and supplemented with the National Death Index database (December 2018).

Results

The entire cohort (n = 175) consisted of 108 type A aortic dissections and 67 type B aortic dissections, similarly distributed between groups. The pathogenic group was sign

SUBMITTER: Norton EL 

PROVIDER: S-EPMC7438314 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature